A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461861



Internal ID15175240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:186008492..186208841hg38UCSC Ensembl
Innerchr4:186929646..187129995hg19UCSC Ensembl
Innerchr4:187166640..187366989hg18UCSC Ensembl
Innerchr4:187304795..187505144hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38200350
hg19200350
hg18200350
hg17200350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv683n27
Supporting Variantsnssv538199
SamplesHGDP00191
Known GenesCYP4V2, FAM149A, FLJ38576, TLR3
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv461861
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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